NC CADDRE: Study to Explore Early Development (SEED) Phase II

NC CADDRE：探索早期开发 (SEED) 第二阶段的研究

• 批准号: 8294396
• 负责人: Julie L Daniels
• 金额: $ 102万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-07-01 至 2016-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8294396
• 关键词: NC; CADDRE; Study; Explore; Early

DESCRIPTION (provided by applicant): Autism Spectrum Disorders (ASDs) are severe, life-long neurodevelopmental disorders that confer considerable impairment to individuals and a substantial burden to their families and communities. Little is known about the causes or correlates of ASDs. While diagnostic practices are improving ASD identification, relatively little high quality information is available about the phenotypic variation among ASD children, prevalence of co-morbid conditions, and risk factors for ASDs, some of which might be preventable. In response to growing concern as the number of children identified with autism increased, The Children's Health Act of 2000 mandated CDC to establish autism surveillance and research programs that address the magnitude, incidence, and causes of autism and related developmental disabilities. The Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDREs) were established at six national sites (California, Maryland, North Carolina, Pennsylvania, Colorado, and Georgia) to fulfill this mandate and are currently carrying out the Study to Explore Early Development (SEED), a population-based case-control study. SEED will address hypotheses including: ASD phenotypic variation, including the pattern of clustering of core symptoms, timing of onset, cognitive status, and presence of medical and psychiatric co-morbidities; gastrointestinal features; genetic variation and interaction with environmental risk factors (GxE); infection, immune function, and autoimmunity factors; hormonal factors and maternal reproductive characteristics; and sociodemographic and lifestyle factors. Data collection includes developmental assessments and extensive data on the pre- and perinatal health and environment of the children and their parents via interviews, medical record review, self-administered questionnaires, and biologic samples. Data collection is still ongoing, but as of December 2010, SEED had completed data collection on 1435 children and their families - 350 with ASD, 534 with other neurodevelopmental disorders, and 551 population controls. This proposal seeks to carry out SEED Phase II, recruiting another 1080 children in each study group across the national sites to address hypotheses in five domains: 1) ASD phenotype, 2) infection and immune function, including autoimmunity, 3) reproductive and hormonal features, 4) genetic features, and 5) sociodemographic features. The increased combined sample size will enable well-powered assessment of these hypotheses, particularly for phenotypic subgroups and GxE interactions. Given the experience of SEED I and the infrastructure in place at each CADDRE site, SEED II can be quickly implemented, creating a combined SEED sample of clinical, risk factor, and biological specimens and data on over 3600 families. The combined SEED study will be the largest study of ASD of this kind and is poised to make significant contributions to our understanding of the complex autism phenotype and to identify potential risk factors for autism that deserve more detailed attention in clinical and public health practice to reduce the impact of ASDs.

描述(由申请人提供)：自闭症谱系障碍(ASD)是一种严重的、终生的神经发育障碍，会给个人造成相当大的损害，并给他们的家庭和社区带来重大负担。人们对ASD的原因或相关因素知之甚少。虽然诊断实践正在改进ASD的识别，但关于ASD儿童的表型变异、合并症的流行率以及ASD的风险因素(其中一些因素可能是可以预防的)的高质量信息相对较少。随着被确认为自闭症的儿童数量增加，人们日益担忧，为了应对日益增长的担忧，2000年儿童健康法案授权疾控中心建立自闭症监测和研究计划，以解决自闭症和相关发育障碍的规模、发生率和原因。自闭症和发育障碍研究和流行病学中心(CADDRE)在六个国家地点(加利福尼亚州、马里兰州、北卡罗来纳州、宾夕法尼亚州、科罗拉多州和佐治亚州)建立，以履行这一任务，目前正在开展这项研究，以探索早期发展(SEED)，这是一项基于人群的病例对照研究。SEED将解决的假设包括：ASD表型变异，包括核心症状的聚集模式、发病时间、认知状态以及是否存在内科和精神科共病；胃肠道特征；遗传变异和与环境风险因素(GxE)的相互作用；感染、免疫功能和自身免疫因素；荷尔蒙因素和母亲生殖特征；以及社会人口和生活方式因素。数据收集包括发育评估，以及通过访谈、病历审查、自填式问卷和生物样本对儿童及其父母的产前和围产期健康和环境进行广泛的数据收集。数据收集仍在进行中，但截至2010年12月，SEED已经完成了对1435名儿童及其家庭的数据收集--350名患有自闭症，534名患有其他神经发育障碍，551名人口对照。这项提案旨在执行种子阶段第二阶段，在全国范围内的每个研究小组中再招募1080名儿童，以解决五个领域的假设：1)ASD表型，2)感染和免疫功能，包括自身免疫，3)生殖和激素特征，4)遗传特征，5)社会人口特征。增加的组合样本量将使这些假设的评估变得更加有力，特别是对表型亚组和GxE相互作用。鉴于SEED I的经验和每个CADDRE站点的基础设施到位，SEED II可以快速实施，创建临床、风险因素和生物样本以及3600多个家庭的数据的组合种子样本。联合SEED研究将是此类ASD的最大规模研究，并有望为我们理解复杂的自闭症表型做出重大贡献，并确定自闭症的潜在危险因素，这些因素值得在临床和公共卫生实践中给予更详细的关注，以减少ASD的影响。